A Randomized, Double-Blind, Dose Finding and Comparison Study of the Safety and Efficacy of High Doses of Eteplirsen, Preceded by an Open-Label Dose Escalation, in Patients with Duchenne Muscular Dystrophy With Deletion Mutations Amenable to Exon 51 Skipping
Duchenne muscular dystrophy is a genetic condition that causes muscles to weaken gradually over time. This happens because the body cannot make a key muscle protein called dystrophin. This Phase 3 trial is testing higher doses of a medicine named eteplirsen. Eteplirsen is designed for people whose condition can be treated with 'exon 51 skipping'. This helps cells skip a missing or faulty section of genetic instructions to produce a working version of dystrophin. Doctors want to see if higher doses are safe and if they do a better job of keeping muscles working than standard doses. The study runs for nearly three years. During this time, doctors will monitor heart health, breathing, and walking ability through regular clinic visits and physical assessments.
At a glance
What is this study about?
Duchenne muscular dystrophy (DMD) is a rare genetic condition that usually affects boys. It causes progressive muscle weakness because the body cannot produce dystrophin, an important protein that protects muscle fibres from damage during everyday movement. Over time, tasks like walking, running, and climbing stairs become harder.
Eteplirsen is a medicine designed to treat a specific genetic form of DMD. It works like a patch across a broken piece of genetic code. By 'skipping' an area called exon 51, it helps muscle cells read around the faulty section and make a shorter, working version of dystrophin. While standard doses are already used in some countries, scientists believe that giving higher doses might help the body produce more dystrophin and offer better protection for muscles.
This trial has two main stages. First, a small group receives increasing amounts of the medicine to confirm that higher doses are safe. Next, a larger group compares different doses over 144 weeks (nearly three years) to see which dose works best. Researchers will look at how well boys can walk, rise from the floor, and breathe, as well as checking the health of their hearts and muscles throughout the study.
Key takeaways
- Tests whether higher doses of eteplirsen are safe and more effective than standard doses.
- Only suitable for males with DMD whose genetic fault is treatable by exon 51 skipping.
- Aims to slow muscle weakness and help boys keep their walking ability for longer.
- Involves weekly infusions and regular hospital visits over nearly three years.
- Includes physical tests, heart scans, breathing checks, and blood tests to monitor safety.
Who may be eligible?
This trial is for males who have been diagnosed with Duchenne muscular dystrophy. Because of how the medicine works, participants must have a specific genetic fault (a deletion mutation) that can be treated by skipping exon 51. A genetic test can confirm whether your child's mutation matches this requirement.
Boys of various ages may be considered, but they will need to be able to complete physical checks, such as walking and movement tests.
Participants may not be able to join if they have other major health problems, such as serious heart conditions, or if they are taking other medicines that interfere with the trial treatment. Your specialist doctor can check your child's medical records to see if they are a match.
Could this study suit you?
Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.
- Has a confirmed medical diagnosis of Duchenne muscular dystrophy
- Is male
- Has genetic test results showing a mutation that can be treated by skipping exon 51
- Is able and willing to attend regular hospital visits for infusions and tests over almost 3 years
- Does not have other severe medical conditions that would make taking part unsafe
What does participation involve?
Taking part in this study lasts for up to 144 weeks (nearly three years). Participants will receive eteplirsen as a regular intravenous infusion (a slow drip into a vein), usually given once a week.
You will need to attend regular hospital appointments. During visits, the medical team will carry out physical checks, including the North Star Ambulatory Assessment (a set of simple movement activities), timed walking and running tests, and stair climbs. Doctors will also check lung capacity and heart health using painless tests such as ECGs (heart rhythm traces) and echocardiograms (ultrasound scans of the heart). Regular blood and urine tests will be taken to check overall health, and small muscle samples (biopsies) may be needed to measure dystrophin levels directly.
Potential risks and benefits
Locations (13)
- —UnverifiedItaly
- —UnverifiedDenmark
- —UnverifiedCzechia
- —UnverifiedNorway
- —UnverifiedHungary
- —UnverifiedNetherlands
- —UnverifiedSpain
- —UnverifiedFrance
- —UnverifiedGermany
- —UnverifiedGreece
- —UnverifiedSlovenia
- —UnverifiedPoland
Common questions
What does 'exon 51 skipping' mean?
Genes are like instruction manuals made of sections called exons. In some forms of DMD, exon 51 causes the instructions to become unreadable. Skipping exon 51 bypasses the damaged section so the cell can still read the rest of the recipe and make a working protein.
Will my child receive a dummy drug (placebo)?
This study compares different dose levels of the active drug rather than comparing the drug to an inactive dummy treatment (placebo).
How is the medicine given?
Eteplirsen is given directly into a vein through a drip (intravenous infusion), which typically takes around an hour each week.
Is this a cure for Duchenne muscular dystrophy?
No, eteplirsen is not a cure. It is designed to help slow down muscle damage and help boys maintain their strength and movement for longer.
Can we leave the study if we change our minds?
Yes. Taking part is completely voluntary. You can withdraw your child from the trial at any time, for any reason, without losing access to standard medical care.
How to find out more
Always speak to your GP or specialist before deciding to take part in a study.
Interested in taking part?
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